Multiplexed single-cell characterization of alternative polyadenylation regulators

Cell. 2024 Aug 8;187(16):4408-4425.e23. doi: 10.1016/j.cell.2024.06.005. Epub 2024 Jun 25.

Abstract

Most mammalian genes have multiple polyA sites, representing a substantial source of transcript diversity regulated by the cleavage and polyadenylation (CPA) machinery. To better understand how these proteins govern polyA site choice, we introduce CPA-Perturb-seq, a multiplexed perturbation screen dataset of 42 CPA regulators with a 3' scRNA-seq readout that enables transcriptome-wide inference of polyA site usage. We develop a framework to detect perturbation-dependent changes in polyadenylation and characterize modules of co-regulated polyA sites. We find groups of intronic polyA sites regulated by distinct components of the nuclear RNA life cycle, including elongation, splicing, termination, and surveillance. We train and validate a deep neural network (APARENT-Perturb) for tandem polyA site usage, delineating a cis-regulatory code that predicts perturbation response and reveals interactions between regulatory complexes. Our work highlights the potential for multiplexed single-cell perturbation screens to further our understanding of post-transcriptional regulation.

Keywords: Perturb-seq; RNA processing; alternative polyadenylation; cleavage and polyadenylation; post-transcriptional regulation.

MeSH terms

  • Animals
  • Gene Expression Regulation
  • Humans
  • Introns / genetics
  • Mice
  • Poly A* / metabolism
  • Polyadenylation*
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Single-Cell Analysis* / methods
  • Transcriptome / genetics

Substances

  • Poly A
  • RNA, Messenger